You must complete the following:
(Include the number of the question)
1. Name of the genetic disease Phenylketonuria
2. Symptoms of disease
infants appear normal at birth, many have blue eyes and very fair skin. vomiting and irritability
3. When is the disease usually detected... at birth or later in life?
it is detected at birth, if the doctors test for it.
4. Frequency of carriers of this disease in the population 27200 people have pku in the united states.
5. Frequency of disease in the population
it is very frequent
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction?
it is dominant.
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes?
this disease attacks the amino acids while making proteins.
8. What chromosome number has been determined to carry this gene?
it is carried on chromosome 12
9. What treatment, if any, is used for this disease? How does the treatment affect the disease?
the treatment is a low phenylalanine diet.
10. What is the prognosis or outlook for your baby's recovery?
he/she has to have a very low phenylalanine diet.
11. What future techniques might be used to correct or eliminate your baby's disease?
testing for PKU before the baby is born, and if not testing all the babies for it.
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease.
the child would need special food, and they would need to watch him all the time because one of the symptoms is throwing up and if he throws up, its bad.
13. Include diagrams of your child or factors related to your disease.
(Include the number of the question)
1. Name of the genetic disease
Phenylketonuria
2. Symptoms of disease
infants appear normal at birth, many have blue eyes and very fair skin. vomiting and irritability
3. When is the disease usually detected... at birth or later in life?
it is detected at birth, if the doctors test for it.
4. Frequency of carriers of this disease in the population
27200 people have pku in the united states.
5. Frequency of disease in the population
it is very frequent
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction?
it is dominant.
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes?
this disease attacks the amino acids while making proteins.
8. What chromosome number has been determined to carry this gene?
it is carried on chromosome 12
9. What treatment, if any, is used for this disease? How does the treatment affect the disease?
the treatment is a low phenylalanine diet.
10. What is the prognosis or outlook for your baby's recovery?
he/she has to have a very low phenylalanine diet.
11. What future techniques might be used to correct or eliminate your baby's disease?
testing for PKU before the baby is born, and if not testing all the babies for it.
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease.
the child would need special food, and they would need to watch him all the time because one of the symptoms is throwing up and if he throws up, its bad.
13. Include diagrams of your child or factors related to your disease.